{
  "id": 10015,
  "label": "autosomal dominant severe congenital neutropenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008742",
  "properties": {
    "xrefs": [
      "DOID:0112130",
      "GARD:0009558",
      "MEDGEN:1665322",
      "NCIT:C166155",
      "Orphanet:486",
      "UMLS:C4749612"
    ],
    "synonyms": [
      "severe congenital neutropenia, autosomal dominant",
      "severe congenital neutropenia autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Autosomal dominant form of severe congenital neutropenia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 18559,
      "label": "severe congenital neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050590",
          "GARD:0013592",
          "ICD9:288.01",
          "MEDGEN:343974",
          "MedDRA:10052210",
          "NANDO:1200353",
          "NANDO:2200745",
          "NCIT:C166152",
          "NORD:1705",
          "OMIMPS:202700",
          "Orphanet:42738",
          "SCTID:89655007",
          "UMLS:C1853118"
        ],
        "synonyms": [
          "SCN",
          "Severe Chronic Neutropenia",
          "neutropenia, severe congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0018542"
    }
  ],
  "children": [
    {
      "id": 10964,
      "label": "neutropenia, lethal congenital, with eosinophilia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10015
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006107",
          "MEDGEN:338037",
          "MESH:C564943",
          "OMIM:257100",
          "UMLS:C1850381"
        ],
        "synonyms": [
          "neutropenia, lethal congenital, with eosinophilia",
          "lethal congenital neutropenia with eosinophilia",
          "neutropenia lethal congenital with eosinophilia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009754"
    },
    {
      "id": 14176,
      "label": "neutropenia, severe congenital, 2, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10015
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112131",
          "GARD:0015616",
          "MEDGEN:413975",
          "MESH:C567748",
          "OMIM:613107",
          "UMLS:C2751288"
        ],
        "synonyms": [
          "GFI1 autosomal dominant severe congenital neutropenia",
          "autosomal dominant severe congenital neutropenia caused by mutation in GFI1",
          "neutropenia, severe congenital 2, autosomal dominant",
          "neutropenia, severe congenital, 2, autosomal dominant",
          "SCN2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013139"
    },
    {
      "id": 23064,
      "label": "neutropenia, severe congenital, 1, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10015,
        29331
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080625",
          "GARD:0025849",
          "MEDGEN:348506",
          "MESH:C565969",
          "OMIM:202700",
          "UMLS:C1859966"
        ],
        "synonyms": [
          "neutropenia, severe congenital 1, autosomal dominant",
          "neutropenia, severe congenital, 1, autosomal dominant",
          "SCN1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0042490"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18559,
      "label": "severe congenital neutropenia"
    }
  ]
}